esv3691183
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:81,655
- Publication(s):Pettigrew et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 366 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 366 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3691183 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 227,026,824 | 227,026,824 | 227,108,477 | 227,108,478 |
| esv3691183 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 227,891,540 | 227,891,540 | 227,973,193 | 227,973,194 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16505490 | deletion | FR-17 | SNP array | SNP genotyping analysis | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16505490 | Remapped | Perfect | NC_000002.12:g.(22 7026824_227026824) _(227108477_227108 478)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,026,824 | 227,026,824 | 227,108,477 | 227,108,478 |
| essv16505490 | Submitted genomic | NC_000002.11:g.(22 7891540_227891540) _(227973193_227973 194)del81653 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 227,891,540 | 227,891,540 | 227,973,193 | 227,973,194 |